The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the aorta||90%|
|Abnormality of the voice||90%|
|Hernia of the abdominal wall||50%|
|Abnormality of lipid metabolism||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Biliary tract abnormality||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Single transverse palmar crease||7.5%|
|Synostosis of carpal bones||7.5%|
|Type II diabetes mellitus||7.5%|
|Autosomal recessive inheritance||-|
|Hypoplasia of the maxilla||-|
|Membranous subvalvular aortic stenosis||-|
|Opacification of the corneal stroma||-|
|Short phalanx of finger||-|
|Short upper lip||-|
|Wide intermamillary distance||-|
|Wide nasal bridge||-|
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.